ASCO Updates Policy on Genetic Testing

Action Points

Genetic and genomic testing for cancer susceptibility have introduced a new level of complexity to oncology practice, requiring appropriate education to ensure optimal use for patients, according to an updated policy statement from the American Society of Clinical Oncology.

Note that the update includes recommendations that address five key areas of genetic and genomic testing: germline implications of somatic mutation profiling; multigene panel testing for cancer susceptibility; quality assurance in genetic testing; education of oncology professionals; and access to cancer genetic services.

Genetic and genomic testing for cancer susceptibility have introduced a new level of complexity to oncology practice, requiring appropriate education to ensure optimal use for patients, according to an updated policy statement from the American Society of Clinical Oncology (ASCO).

The update addresses the "opportunities and challenges arising from massively parallel [or] next-generation sequencing (NGS) to cancer susceptibility testing," the authors noted in an article published online in the Journal of Clinical Oncology.

"The sequencing and mapping of the human genome, one of science's greatest modern feats, has launched an age of tremendous discovery and hope in the fight against cancer," ASCO President Julie M. Vose, MD, said in a statement. "As cancer diagnosis and treatment is becoming more genetically driven, new opportunities and questions are emerging about screening for hereditary cancers."

"ASCO is releasing this updated policy statement at this critical juncture to ensure that all interested parties thoughtfully consider these concerns as the future of genetic and genomic testing for cancer susceptibility unfolds."

"Robust discussions among a diverse set of stakeholders will be needed to ensure that all perspectives are listened to and that genetic cancer susceptibility services are comprehensive and patient-centric," the ASCO leaders wrote.

With respect to the five areas addressed by the update, first author Mark E. Robson, MD, of Memorial Sloan Kettering Cancer Center in New York City, and colleagues offered several recommendations, including:

Further research to develop best practices for the delivery of incidental and secondary germ-line findings

Involvement of providers with expertise in cancer risk assessment in ordering and interpreting test panels that include VUS

Support for a risk-based approach to FDA regulation that "does not compromise innovation or limit patient access to testing"

Ongoing, appropriate education of oncologists and other healthcare professionals in cancer risk assessment and management of patients with an inherited predisposition to cancer

Coverage policies that support access to risk assessment and prevention services for patients with suspected genetic risk for cancer

Characterizing the implications of the emerging test capabilities as a "brave new world," the three editorialists also expressed concern about the many putative susceptibility genes that remain indeterminate for their role in carcinogenesis. Many of these so-called variants of uncertain significance (VUS) have minimal evidence to implicate them in cancer susceptibility. Nonetheless, some commercially available bundled gene-panel assays already include these ambiguously defined variants.

Rapid technologic advances such as NGS have significantly chopped the time and cost required to sequence an individual's genetic proﬁle. This technology may supplant single-gene or even multiple-gene panel assays for genetic susceptibility testing, Yu, Vose, and Hayes suggested. However, the more genetic/genomic data generated, the greater is the uncertainty about the clinical relevance.

The American College of Medical Genetics and Genomics has called for universal use of a panel of inherited mutations with strong associations to human diseases whenever a genetic sequencing test is requested -- irrespective of the reason for the sequencing test, noted Yu et al. The majority of the 58 recommended genes involve cancer, and the number of genes included in the panel is expected to increase.

"If this recommendation is implemented, patients and physicians must again be prepared to deal with more data than they are requesting," said Yu, Vose, and Hayes.

Recognizing the prevailing concerns and uncertainties, ASCO "continues to recommend a relatively cautious and selective approach, albeit one that is expanded from the previous guideline," they added.

In discussing the recommendations, Robson and co-authors offered a reminder of how far the field of cancer genetics has come since ASCO issued its first recommendations in 1996.

"The original purpose of risk assessment was largely to provide information regarding second cancer risk and risk to family members," the update panelists wrote. "Now, cancer treatment itself often depends on knowing whether a germline mutation is present. However, as germline information becomes more critical to oncology practice, new technology is introducing greater complexity."

"Cancer care providers from all backgrounds will need to continue their efforts at education to maximize the benefits to patients of new technologies, such as NGS, and organizations such as ASCO will continue to provide educational support."

Accessibility Statement

At MedPage Today, we are committed to ensuring that individuals with disabilities can access all of the content offered by MedPage Today through our website and other properties. If you are having trouble accessing www.medpagetoday.com, MedPageToday's mobile apps, please email legal@ziffdavis.com for assistance. Please put "ADA Inquiry" in the subject line of your email.